Funded Projects

Results of EJP RD Joint Transnational Call (JTC2020)


In December 2019 the EJP RD launched its second Joint Transnational Call (JTC2020) co-funded with the European Commission to fund multilateral “Pre-Clinical Research to Develop Effective Therapies for Rare Diseases”. The aim of the call was to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients. Twenty two countries joined this call: Austria, Belgium, Canada (including Québec), Czech Republic, Finland, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Lithuania, Luxembourg, Poland, Portugal, Slovakia, Spain, Sweden, Switzerland, The Netherlands and Turkey. 

The process included a two-step submission and evaluation procedure.

In the first step a total of 173 eligible pre-proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 30 pre-proposals were selected for full submission. Each of the full proposals was then evaluated by at least two additional external experts whose reviews were sent to project coordinators in order to give them the opportunity of studying the assessments and commenting on experts’ arguments and evaluations. Both inputs were taken into account in a second SEC meeting. 

Following the second SEC evaluation and ranking of the best projects, 18 consortia with a foreseen budget of about 24,5 Mio € were selected for funding, including 2.7 Mio € of co-funding from the European Commission. 

The list of funded projects is detailed below. More information on the funded projects and the outcomes of the call (lay summaries, statistics, etc.) will be provided soon. 

Selected Projects


Title: Aniridia – Novel therapeutic tools to treat or prevent progressive cornea opacification 

CoordinatorLagali, Neil (SE) 

Partners: ZHOU, Huiqing (NL) – Ashery-Padan, Ruth (IL) – LATTA, Lorenz (DE) – Bremond Gignac, Dominique (FR) – Güven, Sinan (TR) 



Title: Antioxidant treatment as a novel therapeutic option for microvillus inclusion disease 

Coordinatorvan IJzendoorn, Sven (NL) 

Partners: Arango, Diego (ES) – Cerf-Bensussan, Nadine (FR) – Bakowsky, Udo (DE) 



Title: CHAnging Rare disorders of LysInE metabolism 

Coordinatorvan Karnebeek, Clara (NL) 

Partners: Dimitrov, Bianca (DE) – Fillat, Cristina (ES) – Leavitt, Blair (CA) – CoeneKarlien (NL) – Hrabé Angelis, Martin (DE) – Ia Marca, Giancarlo (IT) – Linster, Carole (LU) – Familias GA1 (ES) – Selbsthilfegruppe Glutarazidurie ev. (DE) – Vereniging VolwassenenKinderen en Stofwisselingsziekten (NL) 



Title: A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome 

CoordinatorPrigione, Alessandro (DE) 

Partners: Pless, Ole (DE) – Edenhofer, Frank (AT) – Koopman, Werner (NL) – SuomalainenAnu (FI) – Lisowski, Pawel (PL) – BottaniEmanuela (IT) – Del Sol, Antonio (LU) – International Mito Patients (NL) 



Title: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies 

CoordinatorBueren, Juan (ES) 

Partners: Lafontaine, Denis L.J (BE) – Beléndez, Cristina (ES) – Leblanc, Thierry (FR) – Niemeyer, Charlotte (DE) – Schmidt, Manfred (DE) – Asociación Afectados Blackfan Diamond España (ES) – Association Francophone de la Maladie de Blackfan-Diamond (AFMBD) (FR) – Diamond-BlackfanAnämie Selbsthilfe E.V. 



Title: Safety and efficacy of a possible epigenetic therapy for FSHD muscular dystrophy 

CoordinatorGabelliniDavide (IT) 

Partners: Al-awar, Rima (CA) – Schotta, Gunnar (DE) – Eraslan, Serpil (TR) – Siciliano, Gabriele (IT) – Unione Italiana Lotta alla Distrofia Muscolare (IT) 



Title: Gene editing as a novel therapeutic strategy in Fanconi anemia 

Coordinator: Río, Paula (ES) – Corn, Jacob (CH) – Cathomen, Toni (DE) – Mussolino, Claudio (DE) – Soulier, Jean (FR) – Sevilla, Julián (ES) – Fundación Anemia de Fanconi (ES) 




Title: Genetic therapy for EYS- and USH2A-associated retinal disease 

CoordinatorCollin, Rob (NL) 

Partners: GyorgyBence (CH) – Stieger, Knut (DE) – Trapani, Ivana (IT) – KalatzisVasiliki (FR) – RemautKatrien (BE) – SiksnysVirginijus (LT) – Stichting Oogfonds Nederland (NL) 



Title: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice. 

CoordinatorMeloniIlaria (IT) 

Partners: Chillon, Miguel (ES) – Ladewig, Julia (DE) – Herault, Yann (FR) – Chiariello, Mario (IT) – Associazione Italiana Rett– Airett (IT) 



Title: Novel therapeutic approaches to target GNE Myopathy 

CoordinatorVideira, Paula (PT) 

Partners: Lochmüller, Hanns (CA) – CaboniPierluigi (IT) – HorstkorteRüdiger (DE) – Associazione Gli Equilibristi – HIBM (IT) 



Title: Therapeutic strategies for Dravet syndrome: upregulation of endogenous SCN1A and modulation of remodeling. 

CoordinatorMantegazza, Massimo (FR) 

Partners: Broccoli, Vania (IT) – de Witte, Peter (BE) – Nadif KasriNael (NL) – Hedrich-Klimosch, Ulrike (DE) – Alliance Syndrome de Dravet (FR) – Dravet Italia Onlus (IT) – Dravet-Syndrom e.V. (DE) – Gruppo Famiglie Dravet Associazione Onlus (IT) – Stichting Dravetsyndroom (NL) 



Title: SGK1 inhibition as a novel therapeutic approach in Long QT syndrome 

CoordinatorWilde, Arthur (NL) 

Partners: Crotti, Lia (IT) – Odening, Katja (CH) – GepsteinLior (IL) – Stichting Hart4Onderzoek (NL) 



Title: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases 

CoordinatorHoeijmakers, Jan (DE) 

Partners: Laugel, Vincent (FR) – Mastroberardino, Pier G. (IT) – Vermeij, Wilbert (NL) – AltunogluUmut (TR) – Stg. Amy and Friends (NL) 



Title: Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias 

CoordinatorPuccio, Hélène (FR) 

Partners: SynofzikMatthis (DE) – Brais, Bernard (CA) – Maltecca, Francesca (IT) – Ataxia of Charlevoix-Saguenay (CA) – Deutsche Heredo-Ataxie Gesellschaft Bundesverband e.V. (DHAG e.V.) & EURO-Ataxia (DE) 



Title: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down 

CoordinatorWeckhuysen, Sarah (BE) 

Partners: Villard, Laurent (FR) – Taglialatela, Maurizio (IT) – Gribbon, Philip (DE) – Wuttke, Thomas (DE) – Dravet Italia Onlus (IT) 



Title: Translating cGMP analogues into a treatment for retinitis pigmentosa 

CoordinatorMarigo, Valeria (IT) 

Partners: SchipperNicolaas (SE) – Paquet-Durand, Francois (DE) – UrttiArto (FI) – von der LeyenHeiko (DE) – AgcaCavit (TR) – Murro, Vittoria (IT) – PRO RETINA Deutschland e. V. (DE) – Retina Italia odv (IT) 



Title: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome 

CoordinatorErnst, Carl (CA) 

Partners: Piazza, Rocco (IT) – Sessa, Alessandro (IT) – Ewing, Andrew (SE) – Phan, Thi Ngoc Nhu (SE) – Stumpf, Patrick (DE) – Schinzel-Giedion Foundation (UK) 



Title: Multimolecular targeting of copper overload in Wilson disease 

CoordinatorSchmidt, Hartmut (DE) 

Partners: Kroemer, Guido (FR) – Polishchuk, Roman (IT) – Socha, Piotr (PL) – Zischka, Hans (DE) – Association Bernard Pépin pour la maladie de Wilson (FR) – Associazione Nazionale Malattia di Wilson O.N.L.U.S. (IT) – Morbus Wilson e.V. (DE) – Polish Association of Wilson Disease Patients (PL)